RHBDD2 Gene Summary [Human]

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

Details

Type
Processed Transcript
Official Symbol
RHBDD2
Official Name
rhomboid domain containing 2 [Source:HGNC Symbol;Acc:HGNC:23082]
Ensembl ID
ENSG00000005486
Bio databases IDs NCBI: 57414 Ensembl: ENSG00000005486
Aliases rhomboid domain containing 2
Synonyms 0610011L13RIK, NPD007, RHBDL7, rhomboid domain containing 2, Usmg1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RHBDD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • Rhomboid family

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • periodontal pocket
  • iron deficiency anemia
  • autosomal recessive retinitis pigmentosa
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • perinuclear region
  • Golgi Apparatus
  • Mitochondria
  • Golgi membrane
  • nucleoplasm
  • photoreceptor inner segments
  • perikaryon
  • cone inner segments
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RHBDD2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • endoplasmic reticulum unfolded protein response

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • perinuclear region of cytoplasm
  • Golgi membrane
  • Golgi apparatus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • serine-type endopeptidase activity
  • signal recognition particle binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.